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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Nkx2-5 and tetralogy of Fallot in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Goldmuntz E, etal., Circulation. 2001 Nov 20;104(21):2565-8.
  • The annotation has been inferred from sequence orthology with NKX2-5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 additional annotations were made from Goldmuntz E, etal., Circulation. 2001 Nov 20;104(21):2565-8.
  • 48 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 37 papers in RGD have been used to annotate Nkx2-5
  • Curation Notes: DNA:missense mutations:cds:multiple (human)


    • An association has been curated linking Nkx2-5 and tetralogy of Fallot in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with NKX2-5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 48 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 37 papers in RGD have been used to annotate Nkx2-5


    • An association has been curated linking Nkx2-5 and tetralogy of Fallot in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with NKX2-5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 48 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 37 papers in RGD have been used to annotate Nkx2-5
  • Curation Notes: ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
  • Original References(s): PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 PMID:15917268 PMID:16418214 PMID:17544441 PMID:17891434 PMID:18414213 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19933292 PMID:19948535 PMID:20456451 PMID:20807224 PMID:21110066 PMID:22920929 PMID:24033266 PMID:24376681 PMID:25741868 PMID:25742962 PMID:26805889 PMID:27152669 PMID:27904570 PMID:28492532 PMID:28536625 PMID:29368431 PMID:30508507 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884


    • An association has been curated linking Nkx2-5 and tetralogy of Fallot in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Nkx2-5 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 48 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 37 papers in RGD have been used to annotate Nkx2-5
  • Curation Notes: OMIM:187500


    • An association has been curated linking Nkx2-5 and tetralogy of Fallot in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with NKX2-5 (Homo sapiens) [(EXP) inferred from experiment]
  • 48 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 37 papers in RGD have been used to annotate Nkx2-5
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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